Canonical Allele Identifier: CA10799550
Gene: CASZ1 HGNC NCBI

Linked Data

dbSNP Id: rs516243
gnomAD v2: 1-10750432-A-G
gnomAD v3: 1-10690375-A-G
gnomAD v4: 1-10690375-A-G
MyVariant Identifiers: chr1:g.10750432A>G (hg19) chr1:g.10690375A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10690375A>G , CM000663.2:g.10690375A>G GRCh38
NC_000001.10:g.10750432A>G , CM000663.1:g.10750432A>G GRCh37
NC_000001.9:g.10673019A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377022.8:c.16+3499T>C MANE Select ENSP00000366221.3:n.16+3499T>C
ENST00000344008.5:c.16+3499T>C ENSP00000339445.5:n.16+3499T>C
ENST00000377022.7:c.16+3499T>C ENSP00000366221.3:n.16+3499T>C
ENST00000478728.2:n.39+3499T>C
ENST00000496432.6:n.222+3499T>C
NM_001079843.2:c.16+3499T>C NP_001073312.1:n.16+3499T>C
NM_017766.4:c.16+3499T>C NP_060236.3:n.16+3499T>C
XM_005263479.2:c.88+3499T>C XP_005263536.1:n.88+3499T>C
XM_006710712.2:c.16+3499T>C XP_006710775.1:n.16+3499T>C
XM_011541635.1:c.88+3499T>C XP_011539937.1:n.88+3499T>C
XM_005263479.3:c.88+3499T>C XP_005263536.1:n.88+3499T>C
XM_011541635.2:c.88+3499T>C XP_011539937.1:n.88+3499T>C
XM_017001539.2:c.88+3499T>C XP_016857028.1:n.88+3499T>C
XM_017001540.2:c.16+3499T>C XP_016857029.1:n.16+3499T>C
XM_017001541.2:c.16+3499T>C XP_016857030.1:n.16+3499T>C
NM_001079843.3:c.16+3499T>C MANE Select NP_001073312.1:n.16+3499T>C
NM_017766.5:c.16+3499T>C NP_060236.3:n.16+3499T>C
Search 100 bp 5'
Search 100 bp 3'